| Q47875680 | A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade |
| Q38433385 | A practical approach to the genetic neuropathies. |
| Q34526188 | Activity-dependent PI(3,5)P2 synthesis controls AMPA receptor trafficking during synaptic depression. |
| Q38410296 | Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases |
| Q38115571 | Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes |
| Q37218495 | Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease |
| Q91444964 | Cerebral hypomyelination associated with biallelic variants of FIG4 |
| Q50320192 | Charcot Marie Tooth disease type 4J with complex central nervous system features |
| Q38893801 | Common and Divergent Mechanisms in Developmental Neuronal Remodeling and Dying Back Neurodegeneration |
| Q37013034 | Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4. |
| Q37998518 | Demyelinating prenatal and infantile developmental neuropathies |
| Q38687390 | Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease |
| Q38270487 | FIG4 regulates lysosome membrane homeostasis independent of phosphatase function |
| Q39041490 | FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study |
| Q36592491 | Fig4 deficiency: a newly emerged lysosomal storage disorder? |
| Q28477563 | Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies |
| Q90124366 | Genetic modifiers and non-Mendelian aspects of CMT |
| Q38787166 | Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses. |
| Q24617439 | In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P. |
| Q85335514 | Inherited neuropathies |
| Q34764035 | Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy |
| Q36166728 | Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P |
| Q33764669 | Mouse models of PI(3,5)P2 deficiency with impaired lysosome function. |
| Q37351972 | Murine Fig4 is dispensable for muscle development but required for muscle function |
| Q38007033 | Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease |
| Q64082434 | Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction |
| Q27332275 | Mutations in a P-type ATPase gene cause axonal degeneration |
| Q30523191 | Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. |
| Q59697627 | Novel FIG4 mutations in Yunis–Varon syndrome |
| Q36957125 | PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms |
| Q35923223 | Phosphoinositides and vesicular membrane traffic |
| Q90049726 | Phosphoinositides: Regulators of Nervous System Function in Health and Disease |
| Q52311182 | Protective Role of the Lipid Phosphatase Fig4 in the Adult Nervous System. |
| Q35547893 | Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells |
| Q37657008 | Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria |
| Q89578449 | Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms |
| Q91781195 | The Peripheral Nervous System in Amyotrophic Lateral Sclerosis: Opportunities for Translational Research |
| Q33649917 | The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease |
| Q92623510 | The expanding spectrum of neurological disorders of phosphoinositide metabolism |
| Q89543124 | Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes |
| Q33894031 | Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease |
| Q36817367 | Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase |